Abstract:
Introduction: Congenital Glycosylation Disorders (CDG) is a group of pathologies caused by the disorder of the glycosylation process of glycoproteins and glycoconjugates with various disabling multisystem impairment mimicking other pathologies.
Purpose: The implementation of the diagnostic algorithm and identify cases of CDG in the cohort of Moldovan patients.
Material and methods: serum of 40 patients suspected for CDG were analyzed by isoelectric focusing of transferrin (IEFT) and urine by NMR spectroscopy.
Results: The clinical manifestations of the patients were: hypotonia, hepatomegaly, mild hypoglycemia, increased transaminases, abnormal brain MRI, dysmorphic features, failure to thrive and neurological manifestations.
Conclusions: The variety of symptoms in CDG lead to missdiagnosis other pathologies. In the process of diagnosing CDG it is mandatory to exclude secondary abnormalities of glycosylation.
Description:
IMSP Institutul Mamei și Copilului, Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, Departamentul Pediatrie, Mayo Clinic, SUA, Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină și Farmacie „Nicolae Testemițanu” din Republica Moldova, Ziua internațională a științei pentru pace și dezvoltare
